Canonical Allele Identifier: CA8622852
Gene: ITGB3 HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.47274439C>T
GRCh37 chr17:g.45351805C>T
gnomAD v2:
17:45351805 C / T
gnomAD v3:
17:47274439 C / T
gnomAD v4:
chr17-47274439-C-T
Joint Max Group AF 0.00002549 (AFR)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV001290487
RCV003558799
ClinVar Variation:
996193
dbSNP:
75427428
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47274439C>T , CM000679.2:g.47274439C>T GRCh38
NC_000017.10:g.45351805C>T , CM000679.1:g.45351805C>T GRCh37
NC_000017.9:g.42706804C>T NCBI36
NG_008332.2:g.25598C>T , LRG_481:g.25598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.100C>T ENSP00000513002.1:p.Arg34Ter
ENST00000559488.7:c.100C>T MANE Select ENSP00000452786.2:p.Arg34Ter
ENST00000559488.5:c.100C>T ENSP00000452786.1:p.Arg34Ter
ENST00000560629.1:c.65C>T
ENST00000571680.1:c.100C>T ENSP00000461626.1:p.Arg34Ter
NM_000212.2:c.100C>T , LRG_481t1:c.100C>T NP_000203.2:p.Arg34Ter
NM_000212.3:c.100C>T MANE Select NP_000203.2:p.Arg34Ter
Search 100 bp 5'
Search 100 bp 3'